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Article

Lysosomal Storage of Subunit c of Mitochondrial ATP Synthase in Brain-Specific Atp13a2-Deficient Mice.

The American journal of pathology - 1 Dec 2016

Sato Shigeto, Koike Masato, Funayama Manabu, Ezaki Junji, Fukuda Takahiro, Ueno Takashi, Uchiyama Yasuo, Hattori Nobutaka

Abstract excerpt

Kufor-Rakeb syndrome (KRS) is an autosomal recessive form of early-onset parkinsonism linked to the PARK9 locus. The causative gene for KRS is Atp13a2, which encodes a lysosomal type 5 P-type ATPase. We recently showed that KRS/PARK9-linked mutations lead to several lysosomal alterations, including reduced proteolytic processing of cathepsin D in vitro. However, it remains unknown how deficiency of Atp13a2 is...

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Identifiers

PMID: 27770614
DOI: 10.1016/j.ajpath.2016.08.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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